S. Lynch

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

M. Hurles, K. Karczewski, P. Danecek, 2021, American journal of human genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

A. Clarke, S. Berland, L. Greenhalgh, 2023, European Journal of Human Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

S. Sisodiya, D. Fitzpatrick, S. Lynch, 2007, European Journal of Human Genetics.